Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

  title={Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion},
  author={Gilles David and Nacer Eddine Abbas and Giovanni Stevanin and Alexandra D{\"u}rr and Ga{\"e}l Yvert and G{\'e}raldine Cancel and Chantal Weber and Georges Imbert and Fr{\'e}d{\'e}ric Saudou and Eric Antoniou and H. Drabkin and Robert M Gemmill and Paola Giunti and Ali Benomar and Nick W. Wood and Merle Ruberg and Yves Agid and Jean-Louis Mandel and Alexis Brice},
  journal={Nature Genetics},
The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12–13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients. On mutated alleles, CAG repeat size is highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranges from 7 to 17 repeats. Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG… CONTINUE READING
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